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Gene Ontology Classifications
Symbol
Name
ID
Acvrl1
activin A receptor, type II-like 1
MGI:1338946

Go Annotations as Summary Text (Tabular View) (GO Graph)

GO curators for mouse genes have assigned the following annotations to the gene product of Acvrl1. (This text reflects annotations as of Thursday, July 24, 2014.) MGI curation of this mouse gene is considered complete, including annotations derived from the biomedical literature as of April 9, 2008. If you know of any additional information regarding this mouse gene please let us know. Please supply mouse gene symbol and a PubMed ID.
Summary from NCBI RefSeq


[Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a type I cell-surface receptor for the TGF-beta superfamily of ligands. It shares with other type I receptors a high degree of similarity in serine-threonine kinase subdomains, a glycine- and serine-rich region (called the GS domain) preceding the kinase domain, and a short C-terminal tail. The encoded protein, sometimes termed ALK1, shares similar domain structures with other closely related ALK or activin receptor-like kinase proteins that form a subfamily of receptor serine/threonine kinases. Mutations in this gene are associated with hemorrhagic telangiectasia type 2, also known as Rendu-Osler-Weber syndrome 2. [provided by RefSeq, Jul 2008]
Summary text based on GO annotations supported by experimental evidence in mouse
Summary text based on GO annotations supported by experimental evidence in other organisms
Summary text based on GO annotations supported by structural data
Summary text for additional MGI annotations
References
  1. Blaney Davidson EN et al. (2009) Increase in ALK1/ALK5 ratio as a cause for elevated MMP-13 expression in osteoarthritis in humans and mice. J Immunol, 182:7937-45. (PubMed:19494318)
  2. Goumans MJ et al. (2003) Activin receptor-like kinase (ALK)1 is an antagonistic mediator of lateral TGFbeta/ALK5 signaling. Mol Cell, 12:817-28. (PubMed:14580334)
  3. Hong KH et al. (2007) Activin receptor-like kinase 1 is essential for placental vascular development in mice. Lab Invest, 87:670-9. (PubMed:17530030)
  4. Niessen K et al. (2010) ALK1 signaling regulates early postnatal lymphatic vessel development. Blood, 115:1654-61. (PubMed:19903896)
  5. Oh SP et al. (2000) Activin receptor-like kinase 1 modulates transforming growth factor-beta 1 signaling in the regulation of angiogenesis. Proc Natl Acad Sci U S A, 97:2626-31. (PubMed:10716993)
  6. Park SO et al. (2008) ALK5- and TGFBR2-independent role of ALK1 in the pathogenesis of hereditary hemorrhagic telangiectasia type 2. Blood, 111:633-42. (PubMed:17911384)
  7. Somekawa S et al. (2012) Tmem100, an ALK1 receptor signaling-dependent gene essential for arterial endothelium differentiation and vascular morphogenesis. Proc Natl Acad Sci U S A, 109:12064-9. (PubMed:22783020)
  8. Suzuki Y et al. (2010) BMP-9 induces proliferation of multiple types of endothelial cells in vitro and in vivo. J Cell Sci, 123:1684-92. (PubMed:20406889)
  9. Urness LD et al. (2000) Arteriovenous malformations in mice lacking activin receptor-like kinase-1 Nat Genet, 26:328-31. (PubMed:11062473)
  10. Wang X et al. (2013) LRG1 promotes angiogenesis by modulating endothelial TGF-beta signalling. Nature, 499:306-11. (PubMed:23868260)



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Gene Ontology Evidence Code Abbreviations:

  EXP Inferred from experiment
  IC Inferred by curator
  IDA Inferred from direct assay
  IEA Inferred from electronic annotation
  IGI Inferred from genetic interaction
  IMP Inferred from mutant phenotype
  IPI Inferred from physical interaction
  ISS Inferred from sequence or structural similarity
  ISO Inferred from sequence orthology
  ISA Inferred from sequence alignment
  ISM Inferred from sequence model
  NAS Non-traceable author statement
  ND No biological data available
  RCA Reviewed computational analysis
  TAS Traceable author statement


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last database update
10/08/2014
MGI 5.20
The Jackson Laboratory